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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-52062224-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=52062224&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPATA18",
"hgnc_id": 29579,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Thr105Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_145263.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 37,
"alphamissense_prediction": null,
"alphamissense_score": 0.1283,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19819578528404236,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1617,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_145263.4",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Thr105Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000295213.9",
"protein_coding": true,
"protein_id": "NP_660306.1",
"strand": true,
"transcript": "NM_145263.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1617,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000295213.9",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Thr105Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145263.4",
"protein_coding": true,
"protein_id": "ENSP00000295213.4",
"strand": true,
"transcript": "ENST00000295213.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 418,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3802,
"cdna_start": null,
"cds_end": null,
"cds_length": 1257,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017007731.3",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.-47C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863220.1",
"strand": true,
"transcript": "XM_017007731.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 506,
"aa_ref": "T",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1521,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001297608.2",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Thr105Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284537.1",
"strand": true,
"transcript": "NM_001297608.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 506,
"aa_ref": "T",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": 603,
"cds_end": null,
"cds_length": 1521,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000419395.6",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Thr105Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415309.2",
"strand": true,
"transcript": "ENST00000419395.6",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 485,
"aa_ref": "T",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1458,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851879.1",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Thr105Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521938.1",
"strand": true,
"transcript": "ENST00000851879.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 453,
"aa_ref": "T",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4056,
"cdna_start": 603,
"cds_end": null,
"cds_length": 1362,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851878.1",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Thr105Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521937.1",
"strand": true,
"transcript": "ENST00000851878.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 426,
"aa_ref": "T",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4086,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1281,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851873.1",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Thr105Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521932.1",
"strand": true,
"transcript": "ENST00000851873.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 398,
"aa_ref": "T",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1197,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000928448.1",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Thr105Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598507.1",
"strand": true,
"transcript": "ENST00000928448.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 385,
"aa_ref": "T",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3742,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1158,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957036.1",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Thr105Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627095.1",
"strand": true,
"transcript": "ENST00000957036.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 357,
"aa_ref": "T",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3887,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1074,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005265717.3",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Thr105Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265774.1",
"strand": true,
"transcript": "XM_005265717.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3802,
"cdna_start": null,
"cds_end": null,
"cds_length": 1257,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017007731.3",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.-47C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863220.1",
"strand": true,
"transcript": "XM_017007731.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000851876.1",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.203+1327C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521935.1",
"strand": true,
"transcript": "ENST00000851876.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4081,
"cdna_start": null,
"cds_end": null,
"cds_length": 1302,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000851874.1",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.203+1327C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521933.1",
"strand": true,
"transcript": "ENST00000851874.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "NM_001346102.2",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.107+1327C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333031.1",
"strand": true,
"transcript": "NM_001346102.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": null,
"cds_end": null,
"cds_length": 1143,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957035.1",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.203+1327C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627094.1",
"strand": true,
"transcript": "ENST00000957035.1",
"transcript_support_level": null
},
{
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"aa_length": 353,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3762,
"cdna_start": null,
"cds_end": null,
"cds_length": 1062,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851877.1",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.203+1327C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000521936.1",
"strand": true,
"transcript": "ENST00000851877.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
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"feature": "NM_001346103.2",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.-157-9693C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333032.1",
"strand": true,
"transcript": "NM_001346103.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928447.1",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.309+1327C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598506.1",
"strand": true,
"transcript": "ENST00000928447.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2920,
"cdna_start": null,
"cds_end": null,
"cds_length": 141,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851875.1",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.87+10433C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521934.1",
"strand": true,
"transcript": "ENST00000851875.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 433,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3816,
"cdna_start": null,
"cds_end": null,
"cds_length": 1302,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449604.1",
"gene_hgnc_id": 29579,
"gene_symbol": "SPATA18",
"hgvs_c": "c.107+1327C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305560.1",
"strand": true,
"transcript": "XM_047449604.1",
"transcript_support_level": null
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